- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05990179
Genomic Uniformed-Screening Against Rare Disease In All Newborns (GUARDIAN)
Study Overview
Status
Intervention / Treatment
Detailed Description
Newborn screening (NBS) is the process of screening all newborns for select conditions shortly after birth. This process reduces morbidity and mortality by the detection of medically actionable conditions in pre-symptomatic newborns. Approximately 1 in every 180 newborns is diagnosed with a condition through NBS. NBS is a public health service; every infant regardless of health insurance or ability to pay is tested. NBS ensures equity and allows all babies to have the same chance at the healthiest life. Effective NBS requires coordination and collaboration from multiple stakeholders - the parents, the hospital of birth, state department of health lab, the pediatrician, and the specialty referral center.
Conditions included on the NBS must fulfill several criteria: 1) significant clinical benefit for the newborn early in life including treatment administered within the first few years of life, 2) readiness of public health departments to effectively screen for the condition, and 3) feasibility of successful implementation of population screening. In the United States, screening of newborns is under the purview of state public health departments. Each state decides which disorders to screen, and expansions to each state's panel of screened conditions. The federal government also plays a role through the Secretary of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). With rapid improvements in screening technology, diagnostic testing, and treatments, conditions not previously screened through NBS are being considered. Expanding NBS through genome-wide sequencing (GS) will be the most flexible and cost-effective way to add to what is currently in use.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Rebecca R. Hernann
- Phone Number: +1 718-514-4947
- Email: rh2813@cumc.columbia.edu
Study Locations
-
-
New York
-
New York, New York, United States, 10032
- Recruiting
- Columbia University Irving Medical Center/NYP
-
Principal Investigator:
- Rudolph Leibel, MD
-
Contact:
- Rebecca Hernann
- Phone Number: 718-514-4947
- Email: rh2813@cumc.columbia.edu
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Newborns admitted to the well-baby nurseries from the recruiting hospitals
- Newborns born after 33 weeks of gestation
- Newborns whose parents are English, Mandarin, or Spanish speaking
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Screening
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Enrolled in the study
All newborns enrolled in the study will be evaluated.
|
Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Enrollment Rate (percentage)
Time Frame: From study launch to end of enrollment (up to 5 years)
|
Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant.
|
From study launch to end of enrollment (up to 5 years)
|
Successful Sequencing Rate (percentage)
Time Frame: Up to 6 months after the end of enrollment
|
Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns.
|
Up to 6 months after the end of enrollment
|
Screen Positive Rate (percentage)
Time Frame: Up to 6 months after the end of enrollment
|
Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing.
|
Up to 6 months after the end of enrollment
|
True Positive Rate (percentage)
Time Frame: Up to 6 months after the end of enrollment
|
True positive rate will be defined as: number of confirmed diagnosis / number of screen positive.
|
Up to 6 months after the end of enrollment
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Score on Decision Regret Scale
Time Frame: Up to 6 months after the end of enrollment
|
The Decision Regret Scale measures distress or remorse after a health care decision.
This 5-items scale ranges from 0 (no regrets - best outcome) to 100 (highest regret - worst outcome).
Scores above 1 and below 25 are considered as an indication of mild regret.
Scores above 25 are considered as an indication of moderate to severe regret.
|
Up to 6 months after the end of enrollment
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Wendy K. Chung, MD, PhD, Boston Children's Hospital
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- AAAS9161
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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